Incidental Mutation 'R2360:4930432E11Rik'
| ID |
247108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930432E11Rik
|
| Ensembl Gene |
ENSMUSG00000046958 |
| Gene Name |
RIKEN cDNA 4930432E11 gene |
| Synonyms |
|
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R2360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29255998-29276204 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 29274214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000053635
|
| SMART Domains |
Protein: ENSMUSP00000049518
Gene: ENSMUSG00000046958
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
43 |
79 |
3e-11 |
BLAST |
|
WD40
|
131 |
172 |
1.97e2 |
SMART |
|
WD40
|
175 |
214 |
2.24e-2 |
SMART |
|
Blast:WD40
|
257 |
296 |
4e-15 |
BLAST |
|
WD40
|
393 |
437 |
1.32e2 |
SMART |
|
WD40
|
494 |
533 |
2.15e-4 |
SMART |
|
low complexity region
|
598 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
1082 |
1094 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000063585
|
| SMART Domains |
Protein: ENSMUSP00000063695
Gene: ENSMUSG00000051976
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
35 |
67 |
3.29e-5 |
PROSPERO |
|
internal_repeat_1
|
73 |
102 |
3.29e-5 |
PROSPERO |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
coiled coil region
|
161 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187265
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
| Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
| Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
| Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
possibly damaging |
Het |
|
| Other mutations in 4930432E11Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01121:4930432E11Rik
|
APN |
7 |
29,273,426 (GRCm39) |
unclassified |
noncoding transcript |
|
|
IGL01955:4930432E11Rik
|
APN |
7 |
29,273,420 (GRCm39) |
unclassified |
noncoding transcript |
|
|
IGL01971:4930432E11Rik
|
APN |
7 |
29,273,987 (GRCm39) |
unclassified |
noncoding transcript |
|
|
IGL02132:4930432E11Rik
|
APN |
7 |
29,262,704 (GRCm39) |
unclassified |
noncoding transcript |
|
|
IGL02484:4930432E11Rik
|
APN |
7 |
29,262,777 (GRCm39) |
unclassified |
noncoding transcript |
|
|
P0016:4930432E11Rik
|
UTSW |
7 |
29,262,537 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R0051:4930432E11Rik
|
UTSW |
7 |
29,278,526 (GRCm39) |
exon |
noncoding transcript |
|
|
R0060:4930432E11Rik
|
UTSW |
7 |
29,273,595 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R0094:4930432E11Rik
|
UTSW |
7 |
29,260,236 (GRCm39) |
exon |
noncoding transcript |
|
|
R0268:4930432E11Rik
|
UTSW |
7 |
29,274,027 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R0423:4930432E11Rik
|
UTSW |
7 |
29,261,825 (GRCm39) |
exon |
noncoding transcript |
|
|
R0478:4930432E11Rik
|
UTSW |
7 |
29,262,014 (GRCm39) |
exon |
noncoding transcript |
|
|
R0646:4930432E11Rik
|
UTSW |
7 |
29,260,710 (GRCm39) |
exon |
noncoding transcript |
|
|
R1208:4930432E11Rik
|
UTSW |
7 |
29,260,708 (GRCm39) |
exon |
noncoding transcript |
|
|
R1778:4930432E11Rik
|
UTSW |
7 |
29,260,131 (GRCm39) |
exon |
noncoding transcript |
|
|
R1779:4930432E11Rik
|
UTSW |
7 |
29,278,591 (GRCm39) |
exon |
noncoding transcript |
|
|
R1918:4930432E11Rik
|
UTSW |
7 |
29,273,514 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R3736:4930432E11Rik
|
UTSW |
7 |
29,273,996 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R3780:4930432E11Rik
|
UTSW |
7 |
29,260,263 (GRCm39) |
exon |
noncoding transcript |
|
|
R4427:4930432E11Rik
|
UTSW |
7 |
29,278,678 (GRCm39) |
exon |
noncoding transcript |
|
|
R4835:4930432E11Rik
|
UTSW |
7 |
29,274,326 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R4929:4930432E11Rik
|
UTSW |
7 |
29,273,467 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R5042:4930432E11Rik
|
UTSW |
7 |
29,273,927 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R5129:4930432E11Rik
|
UTSW |
7 |
29,260,786 (GRCm39) |
exon |
noncoding transcript |
|
|
R5371:4930432E11Rik
|
UTSW |
7 |
29,261,918 (GRCm39) |
exon |
noncoding transcript |
|
|
R5381:4930432E11Rik
|
UTSW |
7 |
29,262,393 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R5586:4930432E11Rik
|
UTSW |
7 |
29,277,153 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R5874:4930432E11Rik
|
UTSW |
7 |
29,280,610 (GRCm39) |
exon |
noncoding transcript |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCCAGAGCTGCCTCTTG -3'
(R):5'- CCATGTCTTTGTCTAGCTCAGTAGG -3'
Sequencing Primer
(F):5'- TCTTGGCTCTGACAAAATCCAGG -3'
(R):5'- GCTCAGTAGGAGGTGGTAATTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation